Risk of Colorectal Cancer for Carriers of Mutations in MUTYH, with and without a Family History of Cancer
Cette étude estime le risque de cancer colorectal chez les personnes portant une mutation monoallélique du gène MUTYH et possédant ou non un parent au premier degré porteur d'une mutation sur ce même gène et atteint de la maladie (264 cas)
We studied 2332 individuals with monoallelic mutations in MUTYH among 9504 relatives of 264 colorectal cancer (CRC) cases with a MUTYH mutation. We estimated CRC risks, through 70 y of age, of 7.2% for male carriers of monoallelic mutations (95% confidence interval [CI], 4.6%–11.3%) and 5.6% for female carriers of monoallelic mutations (95% CI, 3.6%–8.8%), irrespective of family history. For monoallelic MUTYH mutation carriers with a first-degree relative with CRC, diagnosed by 50 y of age who does not have the MUTYH mutation, risks of CRC were 12.5% for men and (95% CI, 8.6%–17.7%) and 10% for women (95% CI, 6.7%–14.4%). Risks of CRC for carriers of monoallelic mutations in MUTYH with a first-degree relative with CRC are sufficiently high to warrant more intensive screening than for the general population.
http://www.gastrojournal.org/article/S0016-5085%2814%2900080-8/abstract 2014